A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7736331



Internal ID13747794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:5232401..5232402hg38UCSC Ensembl
Outerchr17:5232250..5232554hg38UCSC Ensembl
Innerchr17:5135696..5135697hg19UCSC Ensembl
Outerchr17:5135545..5135849hg19UCSC Ensembl
Innerchr17:5076421..5076420hg18UCSC Ensembl
Outerchr17:5076269..5076573hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38305
hg19305
hg18305
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302906
Supporting Variants
SamplesNA18562
Known GenesLOC100130950, SCIMP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7736331
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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